Fiumara Agata, Sorge Giovanni, Toscano Antonio, Parano Enrico, Pavone Lorenzo, Opitz John M
Pediatric Neurology, Department of Pediatrics, University of Catania, Italy.
Am J Med Genet A. 2004 Jul 30;128A(3):246-9. doi: 10.1002/ajmg.a.20616.
Perrault syndrome (PS) comprises gonadal dysgenesis and sensorineural deafness in females, and deafness in affected males. More recent studies have asked whether the neurological signs in some of the patients are a coincidental finding or part of the syndrome. We report on two pairs of sisters with gonadal dysgenesis and deafness, cerebral, and ocular involvement who developed a progressive, severe sensory, and motor neuropathy. This observation constitutes further evidence of peripheral nervous system involvement in PS. Based on the clinical observations of known patients, two forms of PS may be distinguished: one apparently non-progressive form and another (exemplified by our two sets of sisters) with apparently progressive axonal-cerebellar degeneration.
佩罗特综合征（PS）表现为女性的性腺发育不全和感音神经性耳聋，以及患病男性的耳聋。最近的研究提出，部分患者的神经学体征是偶然发现还是综合征的一部分。我们报告了两对患有性腺发育不全、耳聋、脑部和眼部受累的姐妹，她们出现了进行性、严重的感觉和运动神经病变。这一观察结果进一步证明了佩罗特综合征累及周围神经系统。根据已知患者的临床观察，可区分出两种形式的佩罗特综合征：一种显然是非进行性的形式，另一种（以我们的两对姐妹为例）具有明显进行性的轴索性小脑变性。
